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O60779 (S19A2_HUMAN) Reviewed, UniProtKB/Swiss-Prot

Last modified July 9, 2014. Version 133. Feed History...

Clusters with 100%, 90%, 50% identity | Documents (5) | Third-party data text xml rdf/xml gff fasta
to top of pageNames·Attributes·General annotation·Ontologies·Alt products·Sequence annotation·Sequences·References·Cross-refs·Entry info·DocumentsCustomize order

Names and origin

Protein namesRecommended name:
Thiamine transporter 1

Short name=ThTr-1
Short name=ThTr1
Alternative name(s):
Solute carrier family 19 member 2
Thiamine carrier 1
Short name=TC1
Gene names
Name:SLC19A2
Synonyms:THT1, TRMA
OrganismHomo sapiens (Human) [Reference proteome]
Taxonomic identifier9606 [NCBI]
Taxonomic lineageEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo

Protein attributes

Sequence length497 AA.
Sequence statusComplete.
Protein existenceEvidence at protein level

General annotation (Comments)

Function

High-affinity transporter for the intake of thiamine.

Subcellular location

Membrane; Multi-pass membrane protein.

Tissue specificity

Ubiquitous; most abundant in skeletal and cardiac muscle. Medium expression in placenta, heart, liver and kidney, low in lung.

Involvement in disease

Thiamine-responsive megaloblastic anemia syndrome (TRMA) [MIM:249270]: An autosomal recessive disease characterized by megaloblastic anemia, diabetes mellitus, and sensorineural deafness. Onset is typically between infancy and adolescence, but all of the cardinal findings are often not present initially. The anemia, and sometimes the diabetes, improves with high doses of thiamine. Other more variable features include optic atrophy, congenital heart defects, short stature, and stroke.
Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.2 Ref.11

Sequence similarities

Belongs to the reduced folate carrier (RFC) transporter (TC 2.A.48) family. [View classification]

Sequence caution

The sequence BAG64936.1 differs from that shown. Reason: Erroneous initiation.

Alternative products

This entry describes 2 isoforms produced by alternative splicing. [Align] [Select]
Isoform 1 (identifier: O60779-1)

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.
Isoform 2 (identifier: O60779-2)

The sequence of this isoform differs from the canonical sequence as follows:
     69-269: Missing.

Sequence annotation (Features)

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifier

Molecule processing

Chain1 – 497497Thiamine transporter 1
PRO_0000178663

Regions

Topological domain1 – 2828Cytoplasmic Potential
Transmembrane29 – 4618Helical; Potential
Topological domain47 – 7226Extracellular Potential
Transmembrane73 – 9119Helical; Potential
Topological domain92 – 998Cytoplasmic Potential
Transmembrane100 – 11819Helical; Potential
Topological domain119 – 12810Extracellular Potential
Transmembrane129 – 14921Helical; Potential
Topological domain150 – 16516Cytoplasmic Potential
Transmembrane166 – 18520Helical; Potential
Topological domain186 – 1916Extracellular Potential
Transmembrane192 – 20817Helical; Potential
Topological domain209 – 28577Cytoplasmic Potential
Transmembrane286 – 31025Helical; Potential
Topological domain311 – 33727Extracellular Potential
Transmembrane338 – 35417Helical; Potential
Topological domain355 – 3639Cytoplasmic Potential
Transmembrane364 – 38017Helical; Potential
Topological domain381 – 3866Extracellular Potential
Transmembrane387 – 40923Helical; Potential
Topological domain410 – 41910Cytoplasmic Potential
Transmembrane420 – 44324Helical; Potential
Topological domain444 – 45512Extracellular Potential
Transmembrane456 – 47924Helical; Potential
Topological domain480 – 49718Cytoplasmic Potential

Amino acid modifications

Modified residue11N-acetylmethionine Ref.10
Glycosylation631N-linked (GlcNAc...) Potential
Glycosylation3141N-linked (GlcNAc...) Potential

Natural variations

Alternative sequence69 – 269201Missing in isoform 2.
VSP_036467
Natural variant931D → H in TRMA. Ref.11
VAR_010249
Natural variant1431S → F in TRMA. Ref.11
VAR_010250
Natural variant1721G → D in TRMA. Ref.2
Corresponds to variant rs28937595 [ dbSNP | Ensembl ].
VAR_010248

Sequences

Sequence LengthMass (Da)Tools
Isoform 1 [UniParc].

Last modified January 24, 2001. Version 2.
Checksum: 87A993E2B6FBFE96

FASTA49755,400
        10         20         30         40         50         60 
MDVPGPVSRR AAAAAATVLL RTARVRRECW FLPTALLCAY GFFASLRPSE PFLTPYLLGP 

        70         80         90        100        110        120 
DKNLTEREVF NEIYPVWTYS YLVLLFPVFL ATDYLRYKPV VLLQGLSLIV TWFMLLYAQG 

       130        140        150        160        170        180 
LLAIQFLEFF YGIATATEIA YYSYIYSVVD LGMYQKVTSY CRSATLVGFT VGSVLGQILV 

       190        200        210        220        230        240 
SVAGWSLFSL NVISLTCVSV AFAVAWFLPM PQKSLFFHHI PSTCQRVNGI KVQNGGIVTD 

       250        260        270        280        290        300 
TPASNHLPGW EDIESKIPLN MEEPPVEEPE PKPDRLLVLK VLWNDFLMCY SSRPLLCWSV 

       310        320        330        340        350        360 
WWALSTCGYF QVVNYTQGLW EKVMPSRYAA IYNGGVEAVS TLLGAVAVFA VGYIKISWST 

       370        380        390        400        410        420 
WGEMTLSLFS LLIAAAVYIM DTVGNIWVCY ASYVVFRIIY MLLITIATFQ IAANLSMERY 

       430        440        450        460        470        480 
ALVFGVNTFI ALALQTLLTL IVVDASGLGL EITTQFLIYA SYFALIAVVF LASGAVSVMK 

       490 
KCRKLEDPQS SSQVTTS 

« Hide

Isoform 2 [UniParc].

Checksum: A8C5CDFF6D54540C
Show »

FASTA29632,858

References

« Hide 'large scale' references
[1]"Cloning of the human thiamine transporter, a member of the folate transporter family."
Dutta B., Huang W., Molero M., Kekuda R., Leibach F.H., Devoe L.D., Ganapathy V., Prasad P.D.
J. Biol. Chem. 274:31925-31929(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Placenta.
[2]"Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness."
Labay V., Raz T., Baron D., Mandel H., Williams H., Barrett T., Szargel R., McDonald L., Shalata A., Nosaka K., Gregory S., Cohen N.
Nat. Genet. 22:300-304(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), VARIANT TRMA ASP-172.
[3]"The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter."
Fleming J.C., Tartaglini E., Steinkamp M.P., Schorderet D.F., Cohen N., Neufeld E.J.
Nat. Genet. 22:305-308(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1).
Tissue: Skeletal muscle.
[4]"Mutations in a new gene encoding a thiamine transporter cause thiamine-responsive megaloblastic anaemia syndrome."
Diaz G.A., Banikazemi M., Oishi K., Desnick R.J., Gelb B.D.
Nat. Genet. 22:309-312(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Fetal brain.
[5]Subramanian V.S., Chatterjee N.S., Fleming J.C., Neufeld E.J., Said H.M.
Submitted (MAY-2000) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
Tissue: Colon.
[6]"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S. expand/collapse author list , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
Tissue: Colon, Testis and Trachea.
[7]"The DNA sequence and biological annotation of human chromosome 1."
Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A., Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C., Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K. expand/collapse author list , Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C., Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W., Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J., Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J., Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y., Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J., Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H., Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L., Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J., Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S., Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K., Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R., Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M., Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S., Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J., Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W., McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N., Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V., Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J., Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E., Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S., Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M., White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H., Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E., Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G., Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.
Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[8]Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R. expand/collapse author list , Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
[9]"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
Tissue: Eye.
[10]"N-terminal acetylome analyses and functional insights of the N-terminal acetyltransferase NatB."
Van Damme P., Lasa M., Polevoda B., Gazquez C., Elosegui-Artola A., Kim D.S., De Juan-Pardo E., Demeyer K., Hole K., Larrea E., Timmerman E., Prieto J., Arnesen T., Sherman F., Gevaert K., Aldabe R.
Proc. Natl. Acad. Sci. U.S.A. 109:12449-12454(2012) [PubMed] [Europe PMC] [Abstract]
Cited for: ACETYLATION [LARGE SCALE ANALYSIS] AT MET-1, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
[11]"The spectrum of mutations, including four novel ones, in the thiamine-responsive megaloblastic anemia gene SLC19A2 of eight families."
Raz T., Labay V., Baron D., Szargel R., Anbinder Y., Barrett T., Rabl W., Viana M.B., Mandel H., Baruchel A., Cayuela J.-M., Cohen N.
Hum. Mutat. 16:37-42(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS TRMA HIS-93 AND PHE-143.
+Additional computationally mapped references.

Cross-references

Sequence databases

EMBL
GenBank
DDBJ
AF160812 mRNA. Translation: AAF15129.1.
AJ238413 Genomic DNA. Translation: CAB50771.1.
AJ237724 mRNA. Translation: CAB50770.1.
AF135488 mRNA. Translation: AAD45985.1.
AF158233 Genomic DNA. Translation: AAD51280.1. Sequence problems.
AF160186 Genomic DNA. Translation: AAD51283.1. Sequence problems.
AF160756 Genomic DNA. Translation: AAD54242.1.
AF153330 mRNA. Translation: AAD43534.1.
AF272359 mRNA. Translation: AAK54468.1.
AK304021 mRNA. Translation: BAG64936.1. Different initiation.
AK313779 mRNA. Translation: BAG36517.1.
AK316465 mRNA. Translation: BAH14836.1.
AL021068 Genomic DNA. Translation: CAI19780.1.
AL021068 Genomic DNA. Translation: CAI19782.1.
CH471067 Genomic DNA. Translation: EAW90843.1.
CH471067 Genomic DNA. Translation: EAW90846.1.
BC018514 mRNA. Translation: AAH18514.1.
CCDSCCDS1280.1. [O60779-1]
RefSeqNP_008927.1. NM_006996.2. [O60779-1]
UniGeneHs.30246.

3D structure databases

ProteinModelPortalO60779.
ModBaseSearch...
MobiDBSearch...

Protein-protein interaction databases

BioGrid115811. 3 interactions.
IntActO60779. 1 interaction.
STRING9606.ENSP00000236137.

Chemistry

BindingDBO60779.
ChEMBLCHEMBL3079.
GuidetoPHARMACOLOGY1015.

Protein family/group databases

TCDB2.A.48.2.1. the reduced folate carrier (rfc) family.

PTM databases

PhosphoSiteO60779.

Proteomic databases

MaxQBO60779.
PaxDbO60779.
PRIDEO60779.

Protocols and materials databases

StructuralBiologyKnowledgebaseSearch...

Genome annotation databases

EnsemblENST00000236137; ENSP00000236137; ENSG00000117479. [O60779-1]
ENST00000367804; ENSP00000356778; ENSG00000117479. [O60779-2]
GeneID10560.
KEGGhsa:10560.
UCSCuc001gge.4. human. [O60779-1]
uc001ggf.4. human. [O60779-2]

Organism-specific databases

CTD10560.
GeneCardsGC01M169433.
GeneReviewsSLC19A2.
HGNCHGNC:10938. SLC19A2.
HPAHPA006119.
HPA016599.
MIM249270. phenotype.
603941. gene.
neXtProtNX_O60779.
Orphanet49827. Thiamine-responsive megaloblastic anemia syndrome.
PharmGKBPA35825.
GenAtlasSearch...

Phylogenomic databases

eggNOGNOG241030.
HOVERGENHBG054198.
InParanoidO60779.
KOK14610.
OMACGYFQVI.
PhylomeDBO60779.
TreeFamTF313684.

Enzyme and pathway databases

ReactomeREACT_111217. Metabolism.
REACT_116125. Disease.
SABIO-RKO60779.

Gene expression databases

ArrayExpressO60779.
BgeeO60779.
CleanExHS_SLC19A2.
GenevestigatorO60779.

Family and domain databases

InterProIPR002666. Folate_carrier.
IPR016196. MFS_dom_general_subst_transpt.
IPR028338. ThTr-1.
[Graphical view]
PANTHERPTHR10686. PTHR10686. 1 hit.
PfamPF01770. Folate_carrier. 1 hit.
[Graphical view]
PIRSFPIRSF028739. Folate_carrier. 1 hit.
PIRSF500794. Thiamine_transporter_1. 1 hit.
SUPFAMSSF103473. SSF103473. 2 hits.
ProtoNetSearch...

Other

ChiTaRSSLC19A2. human.
GeneWikiSLC19A2.
GenomeRNAi10560.
NextBio40077.
PROO60779.
SOURCESearch...

Entry information

Entry nameS19A2_HUMAN
AccessionPrimary (citable) accession number: O60779
Secondary accession number(s): B2R9H0 expand/collapse secondary AC list , B4E1X4, Q8WV87, Q9UBL7, Q9UKJ2, Q9UN31, Q9UN43
Entry history
Integrated into UniProtKB/Swiss-Prot: July 15, 1999
Last sequence update: January 24, 2001
Last modified: July 9, 2014
This is version 133 of the entry and version 2 of the sequence. [Complete history]
Entry statusReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Relevant documents

SIMILARITY comments

Index of protein domains and families

MIM cross-references

Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot

Human polymorphisms and disease mutations

Index of human polymorphisms and disease mutations

Human entries with polymorphisms or disease mutations

List of human entries with polymorphisms or disease mutations

Human chromosome 1

Human chromosome 1: entries, gene names and cross-references to MIM